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rs80356650

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
(TG;TG) 0 common in clinvar
Make rs80356650(-;-)
Make rs80356650(-;GT)
ReferenceGRCh38 38.1/141
Chromosome1
Position193147903
GeneCDC73
is asnp
is mentioned by
dbSNPrs80356650
ebirs80356650
HLIrs80356650
Exacrs80356650
Varsomers80356650
Maprs80356650
PheGenIrs80356650
hapmaprs80356650
1000 genomesrs80356650
hgdprs80356650
ensemblrs80356650
gopubmedrs80356650
geneviewrs80356650
scholarrs80356650
googlers80356650
pharmgkbrs80356650
gwascentralrs80356650
openSNPrs80356650
23andMers80356650
23andMe allrs80356650
SNP Nexus

SNPshotrs80356650
SNPdbers80356650
MSV3drs80356650
GWAS Ctlgrs80356650
Max Magnitude0
ClinVar
Risk rs80356650(;)
Alt rs80356650(;)
Reference rs80356650(TG;TG)
Significance Pathogenic
Disease Parathyroid carcinoma
Variation info
Gene CDC73
CLNDBN Parathyroid carcinoma
Reversed 0
HGVS NC_000001.10:g.193117033_193117034delGT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020885.2,


[PMID 15070940] Hyperparathyroidism-jaw tumor syndrome in Roma families from Portugal is due to a founder mutation of the HRPT2 gene.